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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFU1

Variant:p.Q225_Q229del5

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NFU1

NM_001002755.4:p.Q225_Q229del5

hg38:chr2:69400396 ACTGCAGCATGTTCTG>A

Associated Papers

A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.

Lebigot E et al.

Biomedicines, 2021

34440194 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."